Abstract
The Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented, whereas no reports on ophthalmological treatment of such patients have been published. The aim of this study is not only to describe a new patient, but also, for the first time, to present the results of nonoperative management of divergent strabismus. Material and Methods. We present an amblyopic patient with 46,XX, r(15) karyotype: treated conservatively for exotropia of 60 prism diopters. The management consisted of refractive and prismatic correction, eye occlusion, and orthoptic exercises between the age of 15 months and 8 years. Results. The deviation angle of exotropia was decreased to 10 prism diopters, the visual acuity improved to 1.0 in both eyes (Snellen chart) and the fixation pattern was normal. The prisms enabled permanent symmetrical stimulation of the retina, which lead to a development of normal single binocular vision (Maddox test, filter test, and synoptophore tests). Conclusions. Parental karyotype was normal; the analysis of a three-generation pedigree has shown no genetic abnormalities or pregnancy losses so the child's karyotype anomaly was classified as de novo that is a single occurrence of this type of chromosomal disorder in this family. Strabismus in ring chromosome 15 patients is a difficult condition to manage, although success may be achieved.
Highlights
Ring chromosome 15 r(15) is a rare anomaly both in “pure” and in mosaic forms [1]; so far, only ∼50 cases were described [2], and only three cases so far have been reported in prenatal diagnosis [2,3,4] and just one with a twenty-year cytogenetic and molecular followup [5]
Previous studies showed that ring chromosome 15 results in a varied and unspecific phenotype [6, 7]
The final correction OD 5PD, OS 5PD led to achievement of normal single binocular vision and improvement of visual acuity (1.0 OD/OS) (Figure 3)
Summary
Ring chromosome 15 r(15) is a rare anomaly both in “pure” and in mosaic forms [1]; so far, only ∼50 cases were described [2], and only three cases so far have been reported in prenatal diagnosis [2,3,4] and just one with a twenty-year cytogenetic and molecular followup [5]. The purpose of this case study is to present for the first time the state of visual acuity and formation of normal binocular vision in the squinting eye with initial eccentric fixation and amblyopia by means of long-term conservative treatment [9]. As far as we know, there have been no previous reports published on ophthalmic treatment and vision care among ring chromosome 15 patients
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